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3 patient data entries in database for clusters 2 and 3 in age group "juvenile".

Entry
#
Mutations
allele 1allele 2
Clinical representationSymptomsAge groupAge of onsetAge of patientAge of deathReference
59A467T2
L304R3
myopathy, PEO, dysarthria.
-myopathy
-PEO
-dysarthria
juvenile
16n/a37Van Goethem et al, 2003a;

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355R1096C3
A467T2
CPEO, Ptosis, Peripheral neuropathy, COX-deficient fibers, ragged red fibers, presence of mitochondrial dna deletions in muscle, Sensory and motor neuronopathy, Distal and proximal neurogenic change
-peripheral neuropathy
-ragged red fibers
-ptosis
-PEO
juvenile
1742n/aLax et al, 2012a;

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569L304R3
A467T2
psychiatric symptoms, ptosis, opthalmoplegia, dysphonia, dysphagia, muscle weakness, loss of weight, areflexia.
-muscle weakness
-ptosis
-PEO
-dysphagia
-areflexia
juvenile
1628n/aVan Goethem et al, 2001;

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1-5 pathogenic cluster assignment of mutations. Mutations displayed without a superscript number are outside of the assigned pathogenic clusters. See cluster definitions for details.

Number of displayed patient cases: 3
Avg age of onset in displayed cases: 16.3
Std dev in onset in displayed cases: 0.5

Search criteria for patient entries:
Mutations Entry IDs Clusters Reference Residue range
Patients for cluster combinations:
First cluster: Second cluster:
Age group: Any Infantile Childhood Juvenile Adult
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